| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.84867039G>C | CA396979316 | CRISPLD2 | c.852G>C (p.Met284Ile) c.381G>C (p.Met127Ile) c.849G>C (p.Met283Ile) n.1043G>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.84867039G>A | CA8211724 | CRISPLD2 | c.852G>A (p.Met284Ile) c.381G>A (p.Met127Ile) c.849G>A (p.Met283Ile) n.1043G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.84867039G= | CA2238898798 | CRISPLD2 | c.852G= (p.Met284=) c.381G= (p.Met127=) c.849G= (p.Met283=) n.1043G= | dbSNP |